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Allison Ashley-Koch, PhD

Simon G. Gregory, PhD

Elizabeth R. Hauser, PhD

Michael A. Hauser, PhD

Yi-Ju Li, PhD

Yutao Liu, PhD

Svati H. Shah, MD, MHS

Michelle P. Winn, MD

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Core Faculty

Allison Ashley-Koch, PhD Allison Ashley-Koch, PhD, is a Professor in the Section of Medical Genetics, Department of Medicine at Duke University Medical Center. She received her Ph.D. in genetics and molecular biology from Emory University. Dr. Ashley-Koch is a genetic epidemiologist whose primary goal is the identification of genes that contribute to human genetic disorders, including gene-gene and gene-environment interactions. Much of her work focuses on disorders of a neurological or psychiatric nature. She is examining the genetic, epigenetic and environmental contributions to neural tube defects (NTDs), including anencephaly and spina bifida. One of the NTD projects is aimed at understanding the connection between fumonisin exposure and the occurrence of NTDs in Guatemala. Dr. Ashley-Koch is also studying the genetic etiology of Chiari type I malformation, with or without syringomyelia (CMI), a condition often misdiagnosed because of the clinical presentation. The CMI team is using MRI measurements and gene expression profiles to help identify clinically and genetically homogeneous subsets of Chiari patients. Dr. Ashley-Koch has several psychiatric genetic studies that are also on-going, including autism, ADHD, bipolar disorder, depression and post-traumatic stress disorder. A long-standing interest has been the identification of genetic modifiers for sickle cell disease (SCD). Despite the commonality of the sickle cell mutation, there is a wide range of clinical severity in the disease and her group is identifying the genetic risk factors for these complications. Additionally, she is part of larger, collaborative efforts to examine the genetic contributions to birth defects through the Duke Taskforce for Neonatal Genomics, as well as risk for primary open angle glaucoma and non-alcoholic fatty liver disease. Dr. Ashley-Koch's lab is taking a variety of molecular approaches to dissect these diseases, including next generation sequencing technologies, epigenetic methods, genomewide SNP analyses and candidate gene mutation analysis. She works in collaboration with the Duke Center for Human Disease Modeling using zebrafish models to dissect the pathologic consequences of human disease genes. Dr. Ashley-Koch is also interested in statistical methods development to reduce dimensionality and to identify underlying substructure in genetic data sets. She does this in collaboration with Dr. David Dunson in the Duke Statistics Department.

Dr. Ashley-Koch's administrative efforts include serving as Director of Graduate Studies for the Duke University Program in Genetics and Genomics, and Chair of the Scientific and Education Advisory Board for the Chiari & Syringomyelia Foundation, Inc.

Ph.D., Genetics and Molecular Biology, Emory University, Atlanta, GA


Blair Anderson
Eric Lock

Former Trainees

Christina Markunas
Bin Zhu

Selected Publications

Bidwell LC, Garrett ME, McClernon FJ, Fuemmeler BF, Williams RB, Ashley-Koch AE, Kollins SH. A preliminary analysis of interactions between genotype, retrospective ADHD symptoms, and initial reactions to smoking in a sample of young adults. Nicotine Tob Res (2012) 14(2): 229-233. PMID: 21778150

Markunas CA, Soldano K, Dunlap K, Cope H, Asiimwe E, Stajich J, Enterline D, Grant G, Fuchs H, Gregory SG, Ashley-Koch AE. Stratified whole genome linkage analysis of Chiari type I malformation implicates known klippel-feil syndrome genes as putative disease candidates. PLoS One. 2013 Apr 19;8(4):e61521. doi: 10.1371/journal.pone.0061521. PMID: 23620759

Taylor WD, Benjamin S, McQuoid DR, Payne ME, Krishnan RR, MacFall JR, Ashley-Koch A AGTR1 gene variation: association with depression and frontotemporal morphology. Psychiatry Res. 2012 May 31;202(2):104-9. PMID: 22703619

McDonald KK, Stajich J, Blach C, Ashley-Koch AE, Hauser MA. Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered. PLoS One. 2012;7(11):e48864. doi: 10.1371/journal.pone.0048864. PMID: 23155419

Methods development
Zhu B, Dunson DB, Ashley-Koch AE Adverse subpopulation regression for multivariate outcomes with high-dimensional predictors. Stat Med. 2012 Dec 20;31(29):4102-13. PMID: 22825854

Krupp DR, Xu PT, Thomas S, Dellinger A, Etchevers HC, Vekemans M, Gilbert JR, Speer MC, Ashley-Koch AE, Gregory SG; Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE). National Birth Defects Prevention Study. Birth Defects Res A Clin Mol Teratol. 2012 Sep;94(9):683-92. PMID: 22806986

Lu Y, Vitart V, Burdon KP, Khor CC, Bykhovskaya Y, Mirshahi A, Hewitt AW, Koehn D, Hysi PG, Ramdas WD, Zeller T, Vithana EN, Cornes BK, Tay WT, Tai ES, Cheng CY, Liu J, Foo JN, Saw SM, Thorleifsson G, Stefansson K, Dimasi DP, Mills RA, Mountain J, Ang W, Hoehn R, Verhoeven VJ, Grus F, Wolfs R, Castagne R, Lackner KJ, Springelkamp H, Yang J, Jonasson F, Leung DY, Chen LJ, Tham CC, Rudan I, Vatavuk Z, Hayward C, Gibson J, Cree AJ, MacLeod A, Ennis S, Polasek O, Campbell H, Wilson JF, Viswanathan AC, Fleck B, Li X, Siscovick D, Taylor KD, Rotter JI, Yazar S, Ulmer M, Li J, Yaspan BL, Ozel AB, Richards JE, Moroi SE, Haines JL, Kang JH, Pasquale LR, Allingham RR, Ashley-Koch A, NEIGHBOR Consortium, Mitchell P, Wang JJ, Wright AF, Pennell C, Spector TD, Young TL, Klaver CC, Martin NG, Montgomery GW, Anderson MG, Aung T, Willoughby CE, Wiggs JL, Pang CP, Thorsteinsdottir U, Lotery AJ, Hammond CJ, van Duijn CM, Hauser MA, Rabinowitz YS, Pfeiffer N, Mackey DA, Craig JE, Macgregor S, Wong TY. Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. Nat Genet. 2013 Feb;45(2):155-63. PMID: 23291589

Ulmer M, Li J, Yaspan BL, Ozel AB, Richards JE, Moroi SE, Hawthorne F, Budenz DL, Friedman DS, Gaasterland D, Haines J, Kang JH, Lee R, Lichter P, Liu Y, Pasquale LR, Pericak-Vance M, Realini A, Schuman JS, Singh K, Vollrath D, Weinreb R, Wollstein G, Zack DJ, Zhang K, Young T, Allingham RR, Wiggs JL, Ashley-Koch A, Hauser MA. Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia. Invest Ophthalmol Vis Sci. 2012 Jul 3;53(8):4468-74. PMID: 22661486

Ashley-Koch AE, Okocha EC, Garrett ME, Soldano K, De Castro LM, Jonassaint JC, Orringer EP, Eckman JR, Telen MJ. MYH9 and APOL1 are both associated with sickle cell disease nephropathy. Br J Haematol. Nov;155(3):386-94, 2011. PMID:21910715

Lab Photos

Planking in 2013 when Dr. Ashley-Koch wasn't looking.

UPGG Students and Faculty at the 2013 Graduation Ceremony

CHG Holiday Party 2012

Contact at:
Center for Human Genetics
DUMC Box 2903
Durham, NC 27710
Phone: 1-919-684-1805
Fax: 1-919-684-0912
E-mail: allison.ashleykoch@duke.edu

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